De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

@article{Saitsu2008DeNM,
  title={De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy},
  author={Hirotomo Saitsu and Mitushiro Kato and Takeshi Mizuguchi and Keisuke Hamada and Hitoshi Osaka and Jun Tohyama and Katsuhisa Uruno and Satoko Kumada and Kiyomi Nishiyama and Akira Nishimura and Ippei Okada and Yukiko Yoshimura and Syu-ichi Hirai and Tatsuro Kumada and Kiyoshi Hayasaka and Atsuo Fukuda and Kazuhiro Ogata and Naomichi Matsumoto},
  journal={Nature Genetics},
  year={2008},
  volume={40},
  pages={782-788}
}
Early infantile epileptic encephalopathy with suppression-burst (EIEE), also known as Ohtahara syndrome, is one of the most severe and earliest forms of epilepsy. Using array-based comparative genomic hybridization, we found a de novo 2.0-Mb microdeletion at 9q33.3–q34.11 in a girl with EIEE. Mutation analysis of candidate genes mapped to the deletion revealed that four unrelated individuals with EIEE had heterozygous missense mutations in the gene encoding syntaxin binding protein 1 (STXBP1… CONTINUE READING
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